Canonical Allele Identifier: CA10618085

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 344260
• ClinVar RCV Id: RCV000309224 ; RCV003650573
• dbSNP Id: rs886058198
• gnomAD v4: 3-180615032-T-C
• MyVariant Identifiers: chr3:g.180332820T>C (hg19) ; chr3:g.180615032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180615032T>C , CM000665.2:g.180615032T>C	GRCh38
NC_000003.11:g.180332820T>C , CM000665.1:g.180332820T>C	GRCh37
NC_000003.10:g.181815514T>C	NCBI36
NG_029581.1:g.69464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2715A>G (CCDC39) MANE Select	ENSP00000417960.2:p.Lys905=
ENST00000489868.6:c.186-1168A>G (CCDC39)	ENSP00000420025.1:n.186-1168A>G
ENST00000651046.1:c.2523A>G (CCDC39)	ENSP00000499175.1:p.Lys841=
ENST00000651922.1:n.2040A>G (CCDC39)
ENST00000652010.1:n.2791A>G (CCDC39)
ENST00000382584.8:c.1775-2348T>C (TTC14)	ENSP00000372027.4:n.1775-2348T>C
ENST00000442201.6:c.2715A>G	ENSP00000405708.2:p.Lys905=
ENST00000473854.5:c.266A>G
ENST00000476379.5:c.*539A>G	ENSP00000417960.1:n.*539A>G
ENST00000489868.5:c.186-1168A>G	ENSP00000420025.1:n.186-1168A>G
NM_001288582.1:c.1775-2348T>C (TTC14)	NP_001275511.1:n.1775-2348T>C
NM_181426.1:c.2715A>G (CCDC39)	NP_852091.1:p.Lys905=
NM_181426.2:c.2715A>G (CCDC39) MANE Select	NP_852091.1:p.Lys905=
NM_001288582.2:c.1775-2348T>C (TTC14)	NP_001275511.1:n.1775-2348T>C